Recessive mutations of TMC1 associated with moderate to severe hearing loss

od Imtiaz, Ayesha, Maqsood, Azra, Rehman, Atteeq U., Morell, Robert J., Holt, Jeffrey R., Friedman, Thomas B., Naz, Sadaf
Wydane w Neurogenetics (2016)

DFNB86, a novel autosomal recessive nonsyndromic deafness locus on chromosome 16p13.3

od Ali, Rana A., Rehman, Atteeq U., Khan, Shaheen N., Husnain, Tayyab, Riazuddin, Sheikh, Friedman, Thomas B., Ahmed, Zubair M., Riazuddin, Saima
Wydane 2011

Defects in the alternative splicing-dependent regulation of REST cause deafness

od Nakano, Yoko, Kelly, Michael C., Rehman, Atteeq U., Boger, Erich T., Morell, Robert J., Kelley, Matthew W., Friedman, Thomas B., Bánfi, Botond
Wydane w Cell (2018)

A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder

od Tessadori, Federico, Rehman, Atteeq U., Giltay, Jacques C., Xia, Fan, Streff, Haley, Duran, Karen, Bakkers, Jeroen, Lalani, Seema R., van Haaften, Gijs
Wydane w Eur J Hum Genet (2019)

Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome

od Faridi, Rabia, Rehman, Atteeq U., Morell, Robert J., Friedman, Penelope L., Demain, Leigh, Zahra, Sana, Khan, Asma Ali, Tohlob, Dalia, Assir, Muhammad Zaman, Beaman, Glenda, Khan, Shaheen N., Newman, William G., Riazuddin, Sheikh, Friedman, Thomas B.
Wydane w Clin Genet (2016)

Genetic causes of moderate to severe hearing loss point to modifiers

od Naz, Sadaf, Imtiaz, Ayesha, Mujtaba, Ghulam, Maqsood, Azra, Bashir, Rasheeda, Bukhari, Ihtisham, Khan, Muhammad R., Ramzan, Memoona, Fatima, Amara, Rehman, Atteeq U., Iqbal, Muddassar, Chaudhry, Taimur, Lund, Merete, Brewer, Carmen C., Morell, Robert J., Friedman, Thomas B.
Wydane w Clin Genet (2016)

Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness

od Rehman, Atteeq U., Bird, Jonathan E., Faridi, Rabia, Shahzad, Mohsin, Shah, Sujay, Lee, Kwanghyuk, Khan, Shaheen N., Imtiaz, Ayesha, Ahmed, Zubair M., Riazuddin, Saima, Santos-Cortez, Regie Lyn P., Ahmad, Wasim, Leal, Suzanne M., Riazuddin, Sheikh, Friedman, Thomas B.
Wydane w Hum Mutat (2016)

Cone Responses in Usher Syndrome Types 1 and 2 by Microvolt Electroretinography

od Zein, Wadih M., Falsini, Benedetto, Tsilou, Ekaterina T., Turriff, Amy E., Schultz, Julie M., Friedman, Thomas B., Brewer, Carmen C., Zalewski, Christopher K., King, Kelly A., Muskett, Julie A., Rehman, Atteeq U., Morell, Robert J., Griffith, Andrew J., Sieving, Paul A.
Wydane w Invest Ophthalmol Vis Sci (2015)

Grxcr2 is required for stereocilia morphogenesis in the cochlea

od Avenarius, Matthew R., Jung, Jae-Yun, Askew, Charles, Jones, Sherri M., Hunker, Kristina L., Azaiez, Hela, Rehman, Atteeq U., Schraders, Margit, Najmabadi, Hossein, Kremer, Hannie, Smith, Richard J. H., Géléoc, Gwenaëlle S. G., Dolan, David F., Raphael, Yehoash, Kohrman, David C.
Wydane w PLoS One (2018)

Mutational and Phenotypic Spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome

od Faridi, Rabia, Tona, Risa, Brofferio, Alessandra, Hoa, Michael, Olszewski, Rafal, Schrauwen, Isabelle, Assir, Muhammad Z.K., Bandesha, Akhtar A., Khan, Asma A., Rehman, Atteeq U., Brewer, Carmen, Ahmed, Wasim, Leal, Suzanne M., Riazuddin, Sheikh, Boyden, Steven E., Friedman, Thomas B.
Wydane w Hum Mutat (2018)

Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p

od Rehman, Atteeq U., Gul, Khitab, Morell, Robert J., Lee, Kwanghyuk, Ahmed, Zubair M., Riazuddin, Saima, Ali, Rana A., Shahzad, Mohsin, Jaleel, Ateeq-ul, Andrade, Paula B., Khan, Shaheen N., Khan, Saadullah, Brewer, Carmen C., Ahmad, Wasim, Leal, Suzanne M., Riazuddin, Sheikh, Friedman, Thomas B.
Wydane 2011

Harnessing molecular motors for nanoscale pulldown in live cells

od Bird, Jonathan E., Barzik, Melanie, Drummond, Meghan C., Sutton, Daniel C., Goodman, Spencer M., Morozko, Eva L., Cole, Stacey M., Boukhvalova, Alexandra K., Skidmore, Jennifer, Syam, Diana, Wilson, Elizabeth A., Fitzgerald, Tracy, Rehman, Atteeq U., Martin, Donna M., Boger, Erich T., Belyantseva, Inna A., Friedman, Thomas B.
Wydane w Mol Biol Cell (2017)

NCOR1/2 loss of function impairs memory through a novel GABAergic hypothalamus–CA3 projection

od Zhou, Wenjun, He, Yanlin, Rehman, Atteeq U., Kong, Yan, Hong, Sungguan, Ding, Guolian, Yalamanchili, Hari Krishna, Wan, Ying-Wooi, Paul, Basil, Wang, Chuhan, Gong, Yingyun, Zhou, Wenxian, Liu, Hao, Dean, John, Scalais, Emmanuel, O’Driscoll, Mary, Morton, Jenny E.V., Hou, Xinguo, Wu, Qi, Tong, Qingchun, Liu, Zhandong, Liu, Pengfei, Xu, Yong, Sun, Zheng
Wydane w Nat Neurosci (2019)

Mutations in TBC1D24, a Gene Associated With Epilepsy, Also Cause Nonsyndromic Deafness DFNB86

od Rehman, Atteeq U., Santos-Cortez, Regie Lyn P., Morell, Robert J., Drummond, Meghan C., Ito, Taku, Lee, Kwanghyuk, Khan, Asma A., Basra, Muhammad Asim R., Wasif, Naveed, Ayub, Muhammad, Ali, Rana A., Raza, Syed I., Nickerson, Deborah A., Shendure, Jay, Bamshad, Michael, Riazuddin, Saima, Billington, Neil, Khan, Shaheen N., Friedman, Penelope L., Griffith, Andrew J., Ahmad, Wasim, Riazuddin, Sheikh, Leal, Suzanne M., Friedman, Thomas B.
Wydane 2014

Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss

od Richard, Elodie M., Santos-Cortez, Regie LP., Faridi, Rabia, Rehman, Atteeq U., Lee, Kwanghyuk, Shahzad, Mohsin, Acharya, Anushree, Khan, Asma A., Imtiaz, Ayesha, Chakchouk, Imen, Takla, Christina, Abbe, Izoduwa, Rafeeq, Maria, Liaqat, Khurram, Chaudhry, Taimur, Bamshad, Michael J., Schrauwen, Isabelle, Khan, Shaheen N., Morell, Robert J., Zafar, Saba, Ansar, Muhammad, Ahmed, Zubair M., Ahmad, Wasim, Riazuddin, Sheik, Friedman, Thomas B., Leal, Suzanne M., Riazuddin, Saima
Wydane w Hum Mutat (2018)

Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2

od Santos-Cortez, Regie Lyn P., Faridi, Rabia, Rehman, Atteeq U., Lee, Kwanghyuk, Ansar, Muhammad, Wang, Xin, Morell, Robert J., Isaacson, Rivka, Belyantseva, Inna A., Dai, Hang, Acharya, Anushree, Qaiser, Tanveer A., Muhammad, Dost, Ali, Rana Amjad, Shams, Sulaiman, Hassan, Muhammad Jawad, Shahzad, Shaheen, Raza, Syed Irfan, Bashir, Zil-e-Huma, Smith, Joshua D., Nickerson, Deborah A., Bamshad, Michael J., Riazuddin, Sheikh, Ahmad, Wasim, Friedman, Thomas B., Leal, Suzanne M.
Wydane w Am J Hum Genet (2016)

CDC14A phosphatase is essential for hearing and male fertility in mouse and human

od Imtiaz, Ayesha, Belyantseva, Inna A, Beirl, Alisha J, Fenollar-Ferrer, Cristina, Bashir, Rasheeda, Bukhari, Ihtisham, Bouzid, Amal, Shaukat, Uzma, Azaiez, Hela, Booth, Kevin T, Kahrizi, Kimia, Najmabadi, Hossein, Maqsood, Azra, Wilson, Elizabeth A, Fitzgerald, Tracy S, Tlili, Abdelaziz, Olszewski, Rafal, Lund, Merete, Chaudhry, Taimur, Rehman, Atteeq U, Starost, Matthew F, Waryah, Ali M, Hoa, Michael, Dong, Lijin, Morell, Robert J, Smith, Richard J H, Riazuddin, Sheikh, Masmoudi, Saber, Kindt, Katie S, Naz, Sadaf, Friedman, Thomas B
Wydane w Hum Mol Genet (2018)

Challenges and solutions for gene identification in the presence of familial locus heterogeneity

od Rehman, Atteeq U, Santos-Cortez, Regie Lyn P, Drummond, Meghan C, Shahzad, Mohsin, Lee, Kwanghyuk, Morell, Robert J, Ansar, Muhammad, Jan, Abid, Wang, Xin, Aziz, Abdul, Riazuddin, Saima, Smith, Joshua D, Wang, Gao T, Ahmed, Zubair M, Gul, Khitab, Shearer, A Eliot, Smith, Richard J H, Shendure, Jay, Bamshad, Michael J, Nickerson, Deborah A, Hinnant, John, Khan, Shaheen N, Fisher, Rachel A, Ahmad, Wasim, Friderici, Karen H, Riazuddin, Sheikh, Friedman, Thomas B, Wilch, Ellen S, Leal, Suzanne M
Wydane w Eur J Hum Genet (2015)

Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease

od Jenkinson, Emma M., Rehman, Atteeq U., Walsh, Tom, Clayton-Smith, Jill, Lee, Kwanghyuk, Morell, Robert J., Drummond, Meghan C., Khan, Shaheen N., Naeem, Muhammad Asif, Rauf, Bushra, Billington, Neil, Schultz, Julie M., Urquhart, Jill E., Lee, Ming K., Berry, Andrew, Hanley, Neil A., Mehta, Sarju, Cilliers, Deirdre, Clayton, Peter E., Kingston, Helen, Smith, Miriam J., Warner, Thomas T., Black, Graeme C., Trump, Dorothy, Davis, Julian R.E., Ahmad, Wasim, Leal, Suzanne M., Riazuddin, Sheikh, King, Mary-Claire, Friedman, Thomas B., Newman, William G.
Wydane 2013

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

od Rehman, Atteeq U., Najafi, Maryam, Kambouris, Marios, Al‐Gazali, Lihadh, Makrythanasis, Periklis, Rad, Abolfazl, Maroofian, Reza, Rajab, Anna, Stark, Zornitza, Hunter, Jill V., Bakey, Zeineb, Tokita, Mari J., He, Weimin, Vetrini, Francesco, Petersen, Andrea, Santoni, Federico A., Hamamy, Hanan, Wu, Kaman, Al‐Jasmi, Fatma, Helmstädter, Martin, Arnold, Sebastian J., Xia, Fan, Richmond, Christopher, Liu, Pengfei, Karimiani, Ehsan Ghayoor, Karami Madani, GholamReza, Lunke, Sebastian, El‐Shanti, Hatem, Eng, Christine M., Antonarakis, Stylianos E., Hertecant, Jozef, Walkiewicz, Magdalena, Yang, Yaping, Schmidts, Miriam
Wydane w Hum Mutat (2018)